Incidental Mutation 'R1411:Tfip11'
| ID |
200800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfip11
|
| Ensembl Gene |
ENSMUSG00000029345 |
| Gene Name |
tuftelin interacting protein 11 |
| Synonyms |
Tip39 |
| MMRRC Submission |
039467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R1411 (G1)
|
| Quality Score |
103 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112474235-112485939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112480899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 292
(V292L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031288]
[ENSMUST00000031289]
[ENSMUST00000129528]
[ENSMUST00000146510]
[ENSMUST00000198238]
|
| AlphaFold |
Q9ERA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031288
AA Change: V292L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345
AA Change: V292L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIP_N
|
17 |
114 |
1.4e-30 |
PFAM |
|
G_patch
|
148 |
194 |
3.3e-18 |
SMART |
|
low complexity region
|
212 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
242 |
N/A |
INTRINSIC |
|
Pfam:GCFC
|
398 |
667 |
3.4e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031289
|
| SMART Domains |
Protein: ENSMUSP00000031289
Gene: ENSMUSG00000029346
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
54 |
N/A |
INTRINSIC |
|
Pfam:SRR1
|
109 |
164 |
2.1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129528
|
| SMART Domains |
Protein: ENSMUSP00000115225
Gene: ENSMUSG00000029345
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIP_N
|
15 |
70 |
9.1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146510
|
| SMART Domains |
Protein: ENSMUSP00000119870
Gene: ENSMUSG00000029346
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
53 |
N/A |
INTRINSIC |
|
Pfam:SRR1
|
109 |
162 |
1.8e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198238
|
| SMART Domains |
Protein: ENSMUSP00000142844
Gene: ENSMUSG00000029345
| Domain | Start | End | E-Value | Type |
|---|
|
G_patch
|
8 |
54 |
1.9e-20 |
SMART |
|
low complexity region
|
72 |
78 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,374 (GRCm39) |
I85F |
probably damaging |
Het |
| Acp4 |
A |
G |
7: 43,906,267 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,259,177 (GRCm39) |
F1080L |
possibly damaging |
Het |
| Cbx5 |
A |
T |
15: 103,121,547 (GRCm39) |
M30K |
probably benign |
Het |
| Cdc73 |
A |
G |
1: 143,485,252 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,019,177 (GRCm39) |
L34Q |
probably damaging |
Het |
| Chd8 |
C |
T |
14: 52,462,103 (GRCm39) |
V738I |
probably benign |
Het |
| Cpeb2 |
T |
G |
5: 43,391,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,035 (GRCm39) |
D265V |
probably damaging |
Het |
| Cyp2j11 |
A |
G |
4: 96,233,453 (GRCm39) |
I81T |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,530,262 (GRCm39) |
E235G |
probably damaging |
Het |
| Dgkq |
C |
A |
5: 108,798,228 (GRCm39) |
V677F |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,217,441 (GRCm39) |
N928S |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,517,126 (GRCm39) |
V1054M |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,798 (GRCm39) |
D614G |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,071,858 (GRCm39) |
F247L |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,968,632 (GRCm39) |
N228S |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,146,791 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gvin-ps3 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Gzma |
C |
T |
13: 113,232,742 (GRCm39) |
V117I |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,301,663 (GRCm39) |
T3798K |
probably benign |
Het |
| Il1rapl1 |
T |
A |
X: 85,790,904 (GRCm39) |
S679C |
possibly damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,756,045 (GRCm39) |
A607T |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,136 (GRCm39) |
M319K |
probably damaging |
Het |
| Mroh2b |
A |
C |
15: 4,947,799 (GRCm39) |
H538P |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,233,807 (GRCm39) |
T1733A |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,098,435 (GRCm39) |
T8I |
possibly damaging |
Het |
| Padi4 |
C |
T |
4: 140,479,914 (GRCm39) |
S413N |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,894 (GRCm39) |
*1015W |
probably null |
Het |
| Pkhd1 |
G |
A |
1: 20,444,120 (GRCm39) |
P2314L |
probably damaging |
Het |
| Serpinb9c |
C |
G |
13: 33,335,817 (GRCm39) |
V212L |
probably benign |
Het |
| Slc25a23 |
A |
G |
17: 57,366,622 (GRCm39) |
F18L |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,570,251 (GRCm39) |
N751K |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,751,702 (GRCm39) |
K1201R |
unknown |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,671 (GRCm39) |
F322L |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,849 (GRCm39) |
V21A |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,107 (GRCm39) |
I699K |
probably damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,679,527 (GRCm39) |
N566D |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,127,231 (GRCm39) |
D141E |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,634 (GRCm39) |
S364P |
probably benign |
Het |
|
| Other mutations in Tfip11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Tfip11
|
APN |
5 |
112,477,369 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02627:Tfip11
|
APN |
5 |
112,477,679 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0023:Tfip11
|
UTSW |
5 |
112,479,875 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0254:Tfip11
|
UTSW |
5 |
112,483,521 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0465:Tfip11
|
UTSW |
5 |
112,481,130 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0569:Tfip11
|
UTSW |
5 |
112,475,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Tfip11
|
UTSW |
5 |
112,482,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Tfip11
|
UTSW |
5 |
112,482,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Tfip11
|
UTSW |
5 |
112,477,263 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2125:Tfip11
|
UTSW |
5 |
112,483,529 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4781:Tfip11
|
UTSW |
5 |
112,481,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4975:Tfip11
|
UTSW |
5 |
112,483,613 (GRCm39) |
unclassified |
probably benign |
|
|
R5348:Tfip11
|
UTSW |
5 |
112,483,534 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5385:Tfip11
|
UTSW |
5 |
112,479,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5469:Tfip11
|
UTSW |
5 |
112,482,191 (GRCm39) |
nonsense |
probably null |
|
|
R6540:Tfip11
|
UTSW |
5 |
112,482,263 (GRCm39) |
splice site |
probably null |
|
|
R6810:Tfip11
|
UTSW |
5 |
112,481,463 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7199:Tfip11
|
UTSW |
5 |
112,479,044 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7342:Tfip11
|
UTSW |
5 |
112,475,838 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7352:Tfip11
|
UTSW |
5 |
112,481,134 (GRCm39) |
missense |
probably benign |
|
|
R7921:Tfip11
|
UTSW |
5 |
112,483,442 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8070:Tfip11
|
UTSW |
5 |
112,482,796 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8987:Tfip11
|
UTSW |
5 |
112,484,921 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9038:Tfip11
|
UTSW |
5 |
112,481,214 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9567:Tfip11
|
UTSW |
5 |
112,479,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACAGCTCAAGCCTGTGGTAG -3'
(R):5'- ACGCTCCTCATGTGCAAGAACCTC -3'
Sequencing Primer
(F):5'- GTAGGCAGCTCTGTCCATC -3'
(R):5'- TCTCCAGCTCGTGTGACAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation